Oculomaxillofacial dysostosis
ORPHA:1794Malformation syndromeNeonatal
Фенотипы (HPO)21
Частый (30–79%)13
HP:0000161Median cleft lip
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000366Abnormality of the nose
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000499Abnormal eyelash morphology
HP:0000582Upslanted palpebral fissure
HP:0002006Facial cleft
HP:0004322Short stature
HP:0007957Corneal opacity
HP:0100840Aplasia/Hypoplasia of the eyebrow
HP:0200102Sparse or absent eyelashes
Периодический (5–29%)8
HP:0000347Micrognathia
HP:0000492Abnormal eyelid morphology
HP:0001156Brachydactyly
HP:0001181Adducted thumb
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0100490Camptodactyly of finger
HP:0100543Cognitive impairment
HP:0031095Abnormal humerus morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)